http://rdf.disgenet.org/nanopublications.trig#NP228961.RAXM_ozLdUqzao7RTlwvuGms1XsIO4T3Ea8Z0BMXtGBj0130_head http://rdf.disgenet.org/nanopublications.trig#NP228961.RAXM_ozLdUqzao7RTlwvuGms1XsIO4T3Ea8Z0BMXtGBj0 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP228961.RAXM_ozLdUqzao7RTlwvuGms1XsIO4T3Ea8Z0BMXtGBj0130_assertion http://rdf.disgenet.org/nanopublications.trig#NP228961.RAXM_ozLdUqzao7RTlwvuGms1XsIO4T3Ea8Z0BMXtGBj0 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP228961.RAXM_ozLdUqzao7RTlwvuGms1XsIO4T3Ea8Z0BMXtGBj0130_provenance http://rdf.disgenet.org/nanopublications.trig#NP228961.RAXM_ozLdUqzao7RTlwvuGms1XsIO4T3Ea8Z0BMXtGBj0 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP228961.RAXM_ozLdUqzao7RTlwvuGms1XsIO4T3Ea8Z0BMXtGBj0130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP228961.RAXM_ozLdUqzao7RTlwvuGms1XsIO4T3Ea8Z0BMXtGBj0 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP228961.RAXM_ozLdUqzao7RTlwvuGms1XsIO4T3Ea8Z0BMXtGBj0130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP228961.RAXM_ozLdUqzao7RTlwvuGms1XsIO4T3Ea8Z0BMXtGBj0130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP228961.RAXM_ozLdUqzao7RTlwvuGms1XsIO4T3Ea8Z0BMXtGBj0130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP228961.RAXM_ozLdUqzao7RTlwvuGms1XsIO4T3Ea8Z0BMXtGBj0130_assertion http://identifiers.org/ncbigene/3242 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 http://linkedlifedata.com/resource/umls/id/C0268490 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057 http://rdf.disgenet.org/gene-disease-association.ttl#DGN3fdd38e12ddf87626f237007e9657e4c http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/3242 http://rdf.disgenet.org/gene-disease-association.ttl#DGN3fdd38e12ddf87626f237007e9657e4c http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0268490 http://rdf.disgenet.org/gene-disease-association.ttl#DGN3fdd38e12ddf87626f237007e9657e4c http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP228961.RAXM_ozLdUqzao7RTlwvuGms1XsIO4T3Ea8Z0BMXtGBj0130_provenance http://rdf.disgenet.org/nanopublications.trig#NP228961.RAXM_ozLdUqzao7RTlwvuGms1XsIO4T3Ea8Z0BMXtGBj0130_assertion http://purl.org/dc/terms/description [The severe type I tyrosinemia, caused by a deficiency of fumarylacetoacetate hydrolase which functions downstream of HPD in the tyrosine degradation pathway, is often associated with decreased expression of HPD, and interestingly, inhibition of HPD activity seems to ameliorate the clinical symptoms of type I tyrosinemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP228961.RAXM_ozLdUqzao7RTlwvuGms1XsIO4T3Ea8Z0BMXtGBj0130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://rdf.disgenet.org/nanopublications.trig#NP228961.RAXM_ozLdUqzao7RTlwvuGms1XsIO4T3Ea8Z0BMXtGBj0130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/12127941 http://rdf.disgenet.org/nanopublications.trig#NP228961.RAXM_ozLdUqzao7RTlwvuGms1XsIO4T3Ea8Z0BMXtGBj0130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://rdf.disgenet.org/nanopublications.trig#NP228961.RAXM_ozLdUqzao7RTlwvuGms1XsIO4T3Ea8Z0BMXtGBj0130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/eco.owl#ECO_0000203 http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://purl.org/pav/2.0/importedOn 2014-02-25 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/eco.owl#ECO_0000212 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations inferred from text-mining the literature. http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/nanopublications.trig#NP228961.RAXM_ozLdUqzao7RTlwvuGms1XsIO4T3Ea8Z0BMXtGBj0130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP228961.RAXM_ozLdUqzao7RTlwvuGms1XsIO4T3Ea8Z0BMXtGBj0 http://purl.org/dc/terms/created 2014-10-02T12:34:08+02:00 http://rdf.disgenet.org/nanopublications.trig#NP228961.RAXM_ozLdUqzao7RTlwvuGms1XsIO4T3Ea8Z0BMXtGBj0 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP228961.RAXM_ozLdUqzao7RTlwvuGms1XsIO4T3Ea8Z0BMXtGBj0 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP228961.RAXM_ozLdUqzao7RTlwvuGms1XsIO4T3Ea8Z0BMXtGBj0 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP228961.RAXM_ozLdUqzao7RTlwvuGms1XsIO4T3Ea8Z0BMXtGBj0 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP228961.RAXM_ozLdUqzao7RTlwvuGms1XsIO4T3Ea8Z0BMXtGBj0 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP228961.RAXM_ozLdUqzao7RTlwvuGms1XsIO4T3Ea8Z0BMXtGBj0 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP228961.RAXM_ozLdUqzao7RTlwvuGms1XsIO4T3Ea8Z0BMXtGBj0 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP228961.RAXM_ozLdUqzao7RTlwvuGms1XsIO4T3Ea8Z0BMXtGBj0 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP228961.RAXM_ozLdUqzao7RTlwvuGms1XsIO4T3Ea8Z0BMXtGBj0 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP228961.RAXM_ozLdUqzao7RTlwvuGms1XsIO4T3Ea8Z0BMXtGBj0 http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP228961.RAXM_ozLdUqzao7RTlwvuGms1XsIO4T3Ea8Z0BMXtGBj0 http://purl.org/pav/2.0/version v2.1.0.0 http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://purl.org/pav/2.0/version v2.1.0